ArticleCancer genetics2021
Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2).
Article in Cancer genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Longitudinal clinical manifestations of Fanconi anemia: A systematized review.Blood reviews · 2024Pooled it
- Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort.Nature communications · 2026Article
- Genetic and Epigenetic Drivers of Wilms Tumor Predisposition in Russian Pediatric Patients: A Multicenter Study.International journal of molecular sciences · 2026Article
- Unique hematological presentation of patients with biallelic inactivation of FANCD1/BRCA2.Blood advances · 2026Article
- Preventive Measures for Patients with an Elevated Genetic Risk for Gynecological Malignancies, in Particular Familial Breast and Ovarian Cancer.Deutsches Arzteblatt international · 2025Review
- Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes.International journal of molecular sciences · 2025Review
- Head and Neck Cancer in Fanconi Anemia: Clinical Challenges and Molecular Insights into a DNA Repair Disorder.Cancers · 2025Review
- Association of gene variant type and location with breast cancer risk in the general population.Annals of oncology : official journal of the European Society for Medical Oncology · 2025Article
- Review
- Another Fanconi anemia gene joins the club.The Journal of clinical investigation · 2025Article
- Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.The Journal of clinical investigation · 2025Article
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Medulloblastoma in children with Fanconi anemia: Association with FA-D1/FA-N, SHH type and poor survival independent of treatment strategies.Neuro-oncology · 2024Article
- Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia.Familial cancer · 2024Observational
- Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study.Journal of hematology & oncology · 2024Article
- Whole exome sequencing of a novel homozygous missense variant inBiomedical reports · 2024Article
- Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.Clinical genetics · 2023Article
- Fanconi anaemia: A syndrome with distinct subgroups.British journal of haematology · 2022Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome and a cancer predisposition disorder. Cancers in FA include acute leukemia and solid tumors; the most frequent solid tumor is head and neck squamous cell carcinoma. FA is a primarily autosomal recessive disorder. Several of the genes in which biallelic pathogenic variants cause FA are also autosomal monoallelic cancer predisposition genes e.g. FANCD1 (BRCA2) and FANCN (PALB2). We observed that patients with FA due to biallelic or homozygous pathogenic variants in FANCD1 and FANCN have a unique cancer association. We curated published cases plus our NCI cohort cases, including 71 patients in the FANCD1 group (94 cancers and 69 variants) and 16 patients in the FANCN group (23 cancers and 20 variants). Only patients in FANCD1 and FANCN groups had one or more of these tumors: brain tumors (primarily medulloblastoma), Wilms tumor and neuroblastoma; this is a genotype-specific cancer combination of tumors of embryonal origin. Acute leukemias, seen in all FA genotypes, also occurred in FANCD1 and FANCN group patients at young ages. In silico predictions of pathogenicity for FANCD1 variants were compared with results from a mouse embryonic stem cell-based functional assay. Patients with two null FANCD1 variants did not have an increased frequency of cancer nor earlier onset of cancer compared with those with hypomorphic variants. Patients with FA and these specific cancers should consider genetic testing focused on FANCD1 and FANCN, and patients with these genotypes may consider ongoing surveillance for these specific cancers.
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